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Objective@#To carry out genetic testing for a boy presenting with mental retardation and hypoplasia.@*Methods@#Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism based array (SNP-array) were used to analyze the boy and his parents.@*Results@#SNP-array has detected a 25.7 Mb microduplication at 2q33.3q36.3 in the boy. Chromosomal karyotyping and FISH analysis indicated that his mother had a karyotype of 46, XX, ish ins(11; 2)(p15; q33q36), and that the boy has carried an abnormal chromosome 11 derived from the maternal translocation. The karyotype of the boy was ascertained as 46, XY, ish der(11)ins(11; 2)(p15; q33q36)mat.@*Conclusion@#SNP-array combined with G-banding and FISH can delineate the cryptic translocation and is valuable for the assessment of recurrence risk for subsequent pregnancies.
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OBJECTIVE@#To carry out genetic testing for a boy presenting with mental retardation and hypoplasia.@*METHODS@#Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism based array (SNP-array) were used to analyze the boy and his parents.@*RESULTS@#SNP-array has detected a 25.7 Mb microduplication at 2q33.3q36.3 in the boy. Chromosomal karyotyping and FISH analysis indicated that his mother had a karyotype of 46,XX,ish ins(11;2) (p15;q33q36), and that the boy has carried an abnormal chromosome 11 derived from the maternal translocation. The karyotype of the boy was ascertained as 46,XY,ish der(11)ins(11;2) (p15;q33q36)mat.@*CONCLUSION@#SNP-array combined with G-banding and FISH can delineate the cryptic translocation and is valuable for the assessment of recurrence risk for subsequent pregnancies.
Subject(s)
Child , Female , Humans , Male , Pregnancy , Chromosome Banding , Chromosome Duplication , Genetic Testing , Hypospadias , Genetics , In Situ Hybridization, Fluorescence , Intellectual Disability , Genetics , Karyotyping , Polymorphism, Single Nucleotide , Translocation, GeneticABSTRACT
The core protein (CP) of the classical swine fever virus (CSFV) is one of its structural proteins. Apart from forming the nucleocapsid to protect internal viral genomic RNA, this protein is involved in transcriptional regulation. Also, during viral infection, the CP is involved in interactions with many host proteins. In this review, we combine study of this protein with its disorders, structural/functional characteristics, as well as its interactions with the non-structural proteins NS3, NS5B and host proteins such as SUMO-1, UBC9, OS9 and IQGAP1. We also summarize the important part played by the CP in CSFV pathogenicity, virulence and replication of genomic RNA. We also provide guidelines for further studies in the CP of the CSFV.
Subject(s)
Animals , Classical Swine Fever , Virology , Classical Swine Fever Virus , Genetics , Metabolism , Virulence , Genome, Viral , Swine , Viral Core Proteins , Chemistry , Genetics , Metabolism , VirulenceABSTRACT
Objective To study the changes of posterior corneal elevation with one-year follow-up by using Allegro Oculyzer anterior segment diagnostic system in patients who had undergone laser in situ keratomileusis with femtosecond laser (FS-LASIK) for myopia. Methods Ninety eyes of forty-five patients who had undergone FS-LASIK for myopia were included in our study . The spherical equivalent of ametropia was-10.63D to -1.63D. The preoperative and postoperative corneal tomography (including 1, 3, 6 and 12 month after operation ) were collected by Allegro Oculyzer in the posterior corneal elevation and the thickness at central corneal thinnest point of each eye were measured , and the differences of the posterior corneal elevation were calculated. The data were analyzed with ANOVA and Pearson correlation analysis. Results There were no statistically significant differences in the changes of posterior corneal elevation from the preoperative time to the any postoperative follow-up time (F = 1.50, P > 0.05). There were no statistically significant changes of the posterior corneal elevation from the 1st month to 12th month postoperatively (F = 1.47, P > 0.05). There were statistically significant differences in the changes of thickness at central corneal thinnest point from the preoperative to the 12th month postoperative (F = 369.10, P 0.05). Conclusion After strictly followed surgical indications in FS-LASIK, the posterior corneal elevation can keep good stability and has no significant change. Thickness of central cornea thinnest point increases gradually and tends to stablity at the 3th months after surgery.
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Objective To investigate the clinical effect of proximal femoral nail anti-rotation (PFNA) on femoral intertrochanteric fracture in the elderly.Methods Eighty-seven elderly patients from June 2007 to March 2012,who had femoral intertrochanter fracture and received treatment of PFNA,were enrolled in this study.Patients were comprised by forty seven people with stable fracture and forty people with unstable fracture.Results They were all followed up from 4.5months to 14 months,with the average time of 7.2 months.No death were found in hospital.The operation time was 25 min in average.During operation,losing blood was 80 ml.Ambulation time was 5.5 d,and the fracture healing time was 22 weeks in average.However,there were significant differences in intraoperative resetpostoperative position of the blade between the stable and unstable fracture patients (P＜0.01).Conclusions PFNA is one of the effective methods in the treatment of intertrochanter fracture,and it has shorter operation time,less losing blood,earlier ambulation,and hardly has complications.
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OBJECTIVE To find out relative risk factors of nosocomial infection in order to provide the evidence for taking measures to effectively control and reduce the infection rate.METHODS A retrospective survey was carried out on 19 535 cases of hospitalized patients during Jan and Dec of 2006.RESULTS In 2006,the nosocomial infection patients were 389,and the nosocomial infection rate of hospitalized patients was 1.99%;the sections with higher infection rates were respectively as follows: ICU,department of neurology,department of oncology,department of nephrology and department of pediatrics;the infected part of the body mainly occurred in respiratory tract,urinary tract,and gastrointestinal tract.In the nosocomial infection,132 strains were detected and its main pathogens were Gram-negative bacteria(52.27%).CONCLUSIONS The effective measures to control and prevent nosocomial infection rates should involve rational use of antibiotic drugs,increasing in the rate of delivering samples,shortening the period of hospitalization,decreasing in the aggressive operations and strengthening inspections of key departments.
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OBJECTIVE To investigate the current situation and rationality of clinical usage of antibacterial drugs in our hospital and to find out corresponding supervision measures. METHODS According to the same method and criterion,3343 medical records of discharged patients in 14 departments were investigated retrospectively by utilizing the designed questionnaire. RESULTS The total application rate of antibacterial drugs was 60%,and the rate of preventive usage took up 41% of the total application rate,the application rate of cephalosporins was the highest,and that of quinolones was the next.For the combined usage of drugs,1 150 patients were treated with one drug,730 were treated with two drugs,and 99 were treated with more than three drugs.The treatment period of 1 086 patients was less than 7 days. CONCLUSIONS The usage of antibacterial drugs should be supervised more intensively and the training for medical personnel be strengthened to improve their knowledge of using antibacterial drugs,in order to achieve the rational usage of antibacterial drugs.
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Objective To explore the expression of cyclooxygenase-2 (COX-2) in different epidermal tumors and its significance. Method The expression of COX-2 was detected by immunohistochemical staining of skin specimens from 10 cases of basal cell carcinoma (BCC), 8 squamous cell carcinoma (SCC), 8 Bowen′s disease (BD), 12 seborrheic keratosis (SK) and 10 normal volunteers. Results Compared with normal epidermal cells, COX-2 expression was significantly increased in BCC, SCC and BD cells. Especially, COX-2 expression in SCC was the most intensive. COX-2 expression in SK cells was similar to that of normal epidermal cells. Conclusion The up-regulation of COX-2 expression may play a potential role in the pathogenesis of epidermal tumors.
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AIM: To investigate the multidrug resistance(MDR),reversal activity of 2-[4-(2-pyridin-2-yl-vinyl) henyl]-4,5-bis-(4-N,N-diethylaminophenyl)-1(H)-imidazole(FG020318) in a retinoblastoma subline SO-Rb50/VCR,which is resistant to vincristine.METHODS: The procedure of stepwise increase in drug concentrations was used to obtain SO-Rb50/VCR,which was resistant to 200 ?g/L vincristine. The chemosensitivity of this drug resistant cell line with and without FG020318 or cyclosporine A(CSA) were detected by MTT assay and the function of p-glycoprotein(P-gp) was examined by rhodamine 123 accumulation detected with flow cytometry(FCM).RESULTS: FG020318(2.5 ?mol/L) significantly reduced IC50 and increased the rhodamine accumulation in a concentration-dependent manner. It was much stronger than the positive control CSA in reversal of MDR.CONCLUSION: A new tumor MDR modulator FG020318 partly reverses MDR in SO-Rb50/VCR.It may be a promising new drug to tackling MDR.